Nettore, 2013: Overview of all reported CHOR-NKX2-1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
BRA
17
n.a.
Yes
-Motor
Chorea
Chorea
No
n.a.
BRA
n.a.
n.a.
Yes
-Motor
Hypothyroidism
Cognitive impairment
Chorea
Show more (+1)
Hypothyroidism
Chorea
No
n.a.
BRA
n.a.
n.a.
Yes
Hypothyroidism
Chorea
-Motor
Chorea
No
n.a.
BRA
22
n.a.
Yes
Hypothyroidism
Dystonia, cervical
Chorea
Dystonia (any or unspecified)
-Motor
Dystonia
Show more (+3)
Hypothyroidism
Dystonia, cervical
Yes
n.a.
BRA
n.a.
n.a.
Yes
Global developmental delay
Cerebellar signs
Hypothyroidism
Chorea
Ataxia
Developmental delay
Gait impairment
Delayed gross motor development
Motor delay
-Motor
Delayed fine motor development
Show more (+8)
Chorea
Motor delay